Background: The economic burden of Pompe disease (PD) is under-researched. This study aimed to fill this gap and provide evidence-based suggestions for policy improvement based on policy simulation. Methods: Data were derived from a nationally based cross-sectional survey on rare diseases in early 2018. Answers from 92 PD patients were used for data analysis and simulation. Catastrophic health expenditure (CHE) and impoverishment due to illness (IDI) were adopted to measure PD patients’ economic burden. Two typical reimbursement patterns, a ...